Cystic fibrosis (CF) is a progressive multi-system disorder that causes the body to produce abnormally thick, sticky mucus in the lungs and digestive system. There are a variety of symptoms including frequent respiratory infections, poor weight gain, and progressive lung damage. Male fertility is also affected. Treatment of CF depends upon the stage of the disease and the organs involved. The condition is life shortening, with median survival of 37 years. Although CF is no more common among Ashkenazi Jews than it is among other Caucasians, it is one of the most common genetic disorders among Jews and non-Jews alike.
Disease frequency:
One in every 2,500 live Caucasian births.
Carrier frequency:
Approximately 1 in 25 in Caucasians and similar frequency in those of Jewish ancestry.
Diagnosis:
By measuring amount of salt in sweat ("sweat test") or by testing the CF gene.
Inheritance:
Autosomal Recessive
Carrier testing:
Available by testing the CF gene. Testing detects approximately 97% of Ashkenazi Jewish carriers.
Prenatal diagnosis:
Available by testing the CF gene. This testing is available to those with a previous affected child or to couples found to be at risk through carrier testing.
